Revesz syndrome

Overview

Type of disease: Rare conditions

Revesz syndrome is a rare and severe genetic condition that is a variant or subtype of dyskeratosis congenita (please also visit: dyskeratosis congenita) and is primarily characterized by vision abnormalities and bone marrow failure. Typical symptoms of dyskeratosis congenita (DKC) include nail dysplasia (poorly developed nails), white patches inside the mouth (oral leukoplakia), and skin coloration differences especially on the neck and back. Individuals with Revesz syndrome have additional symptoms that include vision abnormalities or blindness, increased bruising and bleeding, low red blood cell counts due to bone marrow abnormalities, blotchy skin, thin and irregular hair, calcium deposits in the brain (cerebral calcifications), delayed growth, increased risk of certain cancers and developmental delays. Symptoms of Revesz syndrome typically onset during childhood. Treatment is symptomatic and bone marrow transplantation is sometimes an option.

Revesz is a telomere disorder (please also visit: Telomere biology disorder). Telomeres are the buffers at the end of the chromosomes (long strands of DNA in the cells containg vital genetic information) which function to protect the chromsomes and DNA near the end of the strands. There is currently no cure, but you should talk to your doctor for the most up to date information. Support groups are a good source of support and information.

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